RGD:11525494 Rat Genome Database

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Variant: RGD:11525494 -  Homo sapiens

RGD ID: 11525494
ClinVar ID: CV246284
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LDLR  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 19 11,226,888
GRCh38 19 11,116,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_274t1:c.1705delG
NM_000527.4:c.1705delG
LRG_274:g.31832delG
NG_009060.1:g.31832delG
More... 		03/25/2016 frameshift variant pathogenic 1-9 / 1 000 000 Fredrickson type IIa hyperlipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; LDL RECEPTOR DISORDER

Variant Details
Variant Transcripts
Gene Symbol:LDLR
Accession:NM_001195798
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195800
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195799
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001195803
Location:INTRON

Gene Symbol:LDLR
Accession:XM_011528010
Location:INTRON

Gene Symbol:LDLR
Accession:NM_001406861
Location:INTRON

Gene Symbol:LDLR
Accession:NM_000527
Location:INTRON

Gene Symbol:LDLR
Accession:XM_047438831
Location:INTRON

Variant Samples